Mutagenetix > Incidental Mutations

Incidental Mutation 'R7132:Rev1'

552717

Institutional Source

Beutler Lab

Gene Symbol

Rev1

Ensembl Gene

ENSMUSG00000026082

Gene Name

REV1, DNA directed polymerase

Synonyms

REV1, Rev1l, 1110027I23Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.917) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38052786-38129801 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38071449 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 573 (D573E)

Ref Sequence

ENSEMBL: ENSMUSP00000027251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027251]

PDB Structure

Solution structure of the mouse Rev1 C-terminal domain [SOLUTION NMR]
Solution structure of the mouse Rev1 CTD in complex with the Rev1-interacting Region (RIR)of Pol Kappa [SOLUTION NMR]
Structure of the Rev1 CTD-Rev3/7-Pol kappa RIR complex [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027251
AA Change: D573E

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027251
Gene: ENSMUSG00000026082
AA Change: D573E

Domain	Start	End	E-Value	Type
BRCT	46	121	3.99e-13	SMART
low complexity region	320	342	N/A	INTRINSIC
Pfam:IMS	420	620	1.9e-43	PFAM
Pfam:IMS_C	700	831	5.8e-20	PFAM
low complexity region	888	901	N/A	INTRINSIC
Pfam:DUF4414	938	1071	9.7e-11	PFAM
Pfam:REV1_C	1127	1248	1.2e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193472

Predicted Effect

probably benign
Transcript: ENSMUST00000194815

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal somatic hypermutation frequency of the Ig gene. Mice homozygous for a knock-out allele exhibit background-sensitive prenatal lethality and abnormal somatic hypermutation frequency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,989,914	A1471V		Het
Ankrd12	C	A	17: 65,983,247	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,619,565	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,569,384	Y277*	probably null	Het
App	T	C	16: 85,056,482	D236G	unknown	Het
Arid2	A	T	15: 96,350,013	K102I	possibly damaging	Het
Asl	A	G	5: 130,014,702	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cbx2	A	G	11: 119,023,121	S5G	probably benign	Het
Ccdc183	A	G	2: 25,616,530		probably null	Het
Cd72	T	C	4: 43,452,444	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,486,762	D702E	possibly damaging	Het
Cfap61	A	T	2: 146,109,950	N784I	probably damaging	Het
Cgrrf1	G	A	14: 46,853,864	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cobll1	T	G	2: 65,133,768	K170Q	probably damaging	Het
Copg2	A	T	6: 30,815,996	V468D	probably benign	Het
Cracr2b	C	T	7: 141,463,738	A84V	probably benign	Het
Cyp2f2	A	T	7: 27,132,568	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391	F75S	probably benign	Het
Eml3	G	T	19: 8,941,028	A829S	probably benign	Het
Entpd3	A	G	9: 120,561,020	T402A	probably benign	Het
Fer1l4	A	T	2: 156,045,626	V550E	probably damaging	Het
Fgb	G	A	3: 83,046,746	R62*	probably null	Het
Fubp1	T	A	3: 152,232,024		probably null	Het
Gdf3	A	C	6: 122,606,324	D361E	probably damaging	Het
Gm6685	A	T	11: 28,339,330	I162N	probably damaging	Het
Hmx2	A	G	7: 131,555,916	Y253C	probably damaging	Het
Ints2	G	T	11: 86,217,754	N922K	probably benign	Het
Ipo7	C	T	7: 110,054,047	L984F	probably benign	Het
Itgae	A	T	11: 73,111,358	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,256,227	V697A	unknown	Het
Kctd18	G	A	1: 57,967,578	R38*	probably null	Het
Kdm5b	A	G	1: 134,599,106	D322G	probably damaging	Het
Ldb3	A	G	14: 34,577,035	Y211H	probably benign	Het
Limch1	T	C	5: 66,953,685	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,879,693	L68*	probably null	Het
Lrwd1	A	G	5: 136,123,275	V616A	possibly damaging	Het
Nars	A	G	18: 64,507,770		probably null	Het
Nradd	T	C	9: 110,622,261	D13G	probably benign	Het
Oacyl	A	T	18: 65,698,409	N39I	probably damaging	Het
Olfr1499	T	A	19: 13,815,422	Q56L	probably benign	Het
Onecut2	A	T	18: 64,340,912	H178L	possibly damaging	Het
Pcdhga4	A	C	18: 37,687,377	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pitpnm3	T	A	11: 72,051,276	I902F	possibly damaging	Het
Plod3	T	C	5: 136,995,117	L180S		Het
Prrc2c	A	T	1: 162,681,281	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,322,066	E58G	probably benign	Het
Sec24a	A	T	11: 51,715,136	L696*	probably null	Het
Serpinb3c	A	G	1: 107,276,951	S22P	probably damaging	Het
St18	A	T	1: 6,859,127	H81L		Het
Stard9	A	T	2: 120,679,378	K266*	probably null	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,344,952	T381I	probably benign	Het
Tecpr2	T	A	12: 110,915,372	V125D	probably damaging	Het
Tmc2	T	C	2: 130,232,409	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,784,225	V143I	probably benign	Het
Trap1	A	G	16: 4,055,829	Y288H	probably benign	Het
Trim39	T	C	17: 36,260,655	T404A	probably benign	Het
Ttn	T	A	2: 76,745,699	K24950I	probably damaging	Het
Ttn	G	T	2: 76,944,352	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,949,468	I471N	probably damaging	Het
Wbp11	T	C	6: 136,821,542	T170A	probably benign	Het
Wnk4	A	G	11: 101,261,200	I177V	probably benign	Het
Zfp455	C	A	13: 67,199,166	P51T	probably damaging	Het
Zfp946	T	C	17: 22,454,663	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,241,615	Y514*	probably null	Het
Zzef1	T	C	11: 72,917,871		probably null	Het

Other mutations in Rev1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Rev1	APN	1	38098940	missense	probably damaging	1.00
IGL01065:Rev1	APN	1	38099009	missense	possibly damaging	0.89
IGL01393:Rev1	APN	1	38092063	missense	probably damaging	1.00
IGL03003:Rev1	APN	1	38088073	missense	possibly damaging	0.77
H8562:Rev1	UTSW	1	38056767	missense	probably damaging	0.96
PIT1430001:Rev1	UTSW	1	38056256	unclassified	probably benign
R0409:Rev1	UTSW	1	38074368	nonsense	probably null
R0606:Rev1	UTSW	1	38059123	missense	probably null	1.00
R1134:Rev1	UTSW	1	38057687	missense	probably benign	0.04
R1171:Rev1	UTSW	1	38088500	missense	possibly damaging	0.89
R1208:Rev1	UTSW	1	38059118	unclassified	probably benign
R1440:Rev1	UTSW	1	38088205	missense	probably damaging	1.00
R1485:Rev1	UTSW	1	38088572	missense	probably benign	0.00
R1627:Rev1	UTSW	1	38055490	missense	probably damaging	0.99
R3845:Rev1	UTSW	1	38098988	missense	probably damaging	0.99
R3948:Rev1	UTSW	1	38074333	missense	possibly damaging	0.69
R4074:Rev1	UTSW	1	38054238	missense	possibly damaging	0.50
R4075:Rev1	UTSW	1	38054238	missense	possibly damaging	0.50
R4076:Rev1	UTSW	1	38054238	missense	possibly damaging	0.50
R4248:Rev1	UTSW	1	38107648	missense	possibly damaging	0.87
R4293:Rev1	UTSW	1	38108419	missense	possibly damaging	0.89
R4548:Rev1	UTSW	1	38059194	missense	possibly damaging	0.72
R4610:Rev1	UTSW	1	38053649	missense	probably damaging	1.00
R4654:Rev1	UTSW	1	38079256	intron	probably benign
R5032:Rev1	UTSW	1	38074489	intron	probably benign
R5286:Rev1	UTSW	1	38055326	nonsense	probably null
R5311:Rev1	UTSW	1	38079393	missense	probably benign	0.00
R5327:Rev1	UTSW	1	38108451	nonsense	probably null
R6363:Rev1	UTSW	1	38071489	missense	probably damaging	1.00
R7050:Rev1	UTSW	1	38054271	missense	probably damaging	1.00
R7072:Rev1	UTSW	1	38067545	nonsense	probably null
R7264:Rev1	UTSW	1	38085601	missense	probably damaging	1.00
R7298:Rev1	UTSW	1	38053104	missense	probably damaging	1.00
R7367:Rev1	UTSW	1	38074407	nonsense	probably null
R7395:Rev1	UTSW	1	38088065	missense	possibly damaging	0.69
R7829:Rev1	UTSW	1	38056445	missense	probably damaging	0.98
R8053:Rev1	UTSW	1	38063141	missense	possibly damaging	0.67
R8093:Rev1	UTSW	1	38075016	intron	probably benign
R8356:Rev1	UTSW	1	38059243	nonsense	probably null
R8456:Rev1	UTSW	1	38059243	nonsense	probably null
R8461:Rev1	UTSW	1	38083787	missense	possibly damaging	0.56
X0017:Rev1	UTSW	1	38053661	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAACTTATTATTCAGCTTGGCGAG -3'
(R):5'- ATGGTGGCACTTTGGAAAGG -3'

Sequencing Primer
(F):5'- CTAAAATTTGGGAGAACTTTAGGTCC -3'
(R):5'- TGGCACTTTGGAAAGGTTAAGATTAG -3'

Posted On

2019-05-15